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An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story

Journal article

Al-Khuzaei S. et al, (2021), Genes, 12, 1241 - 1241

Bilateral paracentral acute middle maculopathy in a SARS-CoV-2-positive patient.

Journal article

Naughton A. et al, (2021), Postgrad Med J

Clinical and genetic spectrum of patients with GUCY2D-associated retinal dystrophies

Conference paper

Hahn LC. et al, (2021), ACTA OPHTHALMOLOGICA, 99, 39 - 40

New variants and in silico analyses in GRK1 associated Oguchi disease.

Journal article

Poulter JA. et al, (2021), Human mutation, 42, 164 - 176

The effect of congenital and acquired bilateral anophthalmia on brain structure

Journal article

BRIDGE H. et al, (2020), Neuro-Ophthalmology

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients

Journal article

Al-khuzaei S. et al, (2020), Genes, 11, 1288 - 1288

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.

Journal article

Shah M. et al, (2020), Ophthalmic Genet, 41, 331 - 337

Hydroxychloroquine hitting the headlines—retinal considerations

Journal article

Downes SM. et al, (2020), Eye

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

Journal article

Shah M. et al, (2020), JAMA Ophthalmology, 138, 544 - 544

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